ClinVar Miner

Submissions for variant NM_000144.5(FXN):c.626A>G (p.Asp209Gly)

gnomAD frequency: 0.00298  dbSNP: rs74621026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178718 SCV000230855 benign not specified 2015-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311029 SCV000735337 likely benign Inborn genetic diseases 2018-02-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics Inc RCV000178718 SCV001880572 benign not specified 2020-10-26 criteria provided, single submitter clinical testing

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